MCID: FMR013
MIFTS: 16

Femoral Agenesis/hypoplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Femoral Agenesis/hypoplasia

MalaCards integrated aliases for Femoral Agenesis/hypoplasia:

Name: Femoral Agenesis/hypoplasia 59
Femoral Intercalary Meromelia 59
Congenital Short Femur 59

Classifications:



External Ids:

Orphanet 59 ORPHA1987
UMLS via Orphanet 74 C0345375
ICD10 via Orphanet 34 Q72.4

Summaries for Femoral Agenesis/hypoplasia

MalaCards based summary : Femoral Agenesis/hypoplasia, also known as femoral intercalary meromelia, is related to congenital femoral deficiency and parkes weber syndrome. An important gene associated with Femoral Agenesis/hypoplasia is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2). Affiliated tissues include bone.

Related Diseases for Femoral Agenesis/hypoplasia

Diseases related to Femoral Agenesis/hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital femoral deficiency 11.6
2 parkes weber syndrome 9.9
3 arthritis 9.9
4 fibular hemimelia 9.9
5 hip subluxation 9.9
6 weber syndrome 9.9

Graphical network of the top 20 diseases related to Femoral Agenesis/hypoplasia:



Diseases related to Femoral Agenesis/hypoplasia

Symptoms & Phenotypes for Femoral Agenesis/hypoplasia

Drugs & Therapeutics for Femoral Agenesis/hypoplasia

Search Clinical Trials , NIH Clinical Center for Femoral Agenesis/hypoplasia

Genetic Tests for Femoral Agenesis/hypoplasia

Anatomical Context for Femoral Agenesis/hypoplasia

MalaCards organs/tissues related to Femoral Agenesis/hypoplasia:

41
Bone

Publications for Femoral Agenesis/hypoplasia

Articles related to Femoral Agenesis/hypoplasia:

(show all 22)
# Title Authors Year
1
Multiple Ligament Reconstruction for Absent Cruciate and a Congenital Short Femur Case Report and Review of the Literature. ( 28583062 )
2017
2
Simultaneous femoral and tibial lengthening in combined congenital complete fibular hemimelia and congenital short femur using Ilizarov ring external fixator. ( 25561754 )
2014
3
Congenital short femur. ( 22485245 )
2012
4
Hip and knee dislocation during femoral lengthening in congenital short femur: a rare case report. ( 18600335 )
2009
5
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. ( 18835518 )
2009
6
Lengthening of the congenital short femur using the Ilizarov technique: a single-surgeon series. ( 19567864 )
2009
7
Knee arthritis in congenital short femur after Wagner lengthening. ( 16801863 )
2006
8
Quadricepsplasty for knee stiffness after femoral lengthening in congenital short femur. ( 12678364 )
2003
9
Factors leading to hip subluxation and dislocation in femoral lengthening of unilateral congenital short femur. ( 11371820 )
2001
10
Knee in congenital short femur. ( 7670984 )
1995
11
Lengthening for congenital short femur. Results of different methods. ( 1670446 )
1991
12
Lengthening in the congenital short femur. ( 2293918 )
1990
13
Unilateral congenital short femur: a case report. ( 2179940 )
1990
14
Pediatric update #4. Familial congenital short femur: intrauterine detection and follow-up by ultrasound. A case report. ( 3050811 )
1988
15
Monozygotic twins concordant for congenital short femur. ( 3746840 )
1986
16
Congenital short femur: prenatal sonographic diagnosis. ( 3892036 )
1985
17
Missing cruciate ligament in congenital short femur. ( 6630254 )
1983
18
Methylmalonic aciduria in a black female child with congenital short femur on the right side. ( 6790839 )
1981
19
Congenital short femur. Clinical, genetic and epidemiological comparison of the naturally occurring condition with that caused by thalidomide. ( 7410462 )
1980
20
Van Nes rotational osteotomy for treatment of proximal femoral focal deficiency and congenital short femur. ( 1201985 )
1975
21
Congenital short femur. ( 5850353 )
1965
22
Congenital short femur; simple femoral hypoplasia. ( 13620709 )
1959

Variations for Femoral Agenesis/hypoplasia

ClinVar genetic disease variations for Femoral Agenesis/hypoplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
2 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
3 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
4 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042

Expression for Femoral Agenesis/hypoplasia

Search GEO for disease gene expression data for Femoral Agenesis/hypoplasia.

Pathways for Femoral Agenesis/hypoplasia

GO Terms for Femoral Agenesis/hypoplasia

Sources for Femoral Agenesis/hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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